A poor vitamin D status has been associated with several autoimmune diseases, including multiple sclerosis (MS). The receptor for the biologically active metabolite of vitamin D appears to be a key player in these associations, not only as a mediator of the biological effects of vitamin D, but also as a mediator of the regulation of vitamin D metabolism itself. In this concise review, we will discuss the mostly investigated genetic polymorphisms of the vitamin D receptor (VDR), and their consequences for VDR functionality and immune regulation. Next, we will discuss the association of these polymorphisms with MS, and their relation with vitamin D metabolism. We conclude that polymorphisms of the VDR have major effects on vitamin D function and metabolism, and should therefore be assessed in studies on vitamin D and MS.
Smolders, J., Peelen, E., Thewissen, M., Menheere, P., Tervaert, J. W., Hupperts, R., & Damoiseaux, J. G. M. C. (2009). The relevance of vitamin D receptor gene polymorphisms for vitamin D research in multiple sclerosis. Autoimmunity Reviews, 8(7), 621-6. https://doi.org/10.1016/j.autrev.2009.02.009